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PTX-022 for Gorlin Syndrome

PTX-022 (QTORIN™ rapamycin) is a novel targeted therapy for Gorlin Syndrome, a serious and lifelong genetic disease caused by a mutation in the PTCH1 gene. Recurrent Basal Cell Carcinomas (BCCs) are a hallmark feature of this disease. Palvella initiated internal research efforts on the potential for QTORIN™ rapamycin in Gorlin Syndrome in 2017.

About Gorlin Syndrome

Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disease caused by a mutation in the PTCH1 gene, a tumor suppressor gene. Individuals afflicted with Gorlin Syndrome can develop hundreds of Basal Cell Carcinomas (BCCs), oftentimes beginning in childhood. BCCs are a malignant skin cancer requiring repeated and potentially disfiguring surgical removal for patients with Gorlin Syndrome.

Gorlin Syndrome affects an estimated 10,000 people in the US. There are no FDA approved therapies for Gorlin, and current approaches have limited utility due to tumor recurrence, resistance, and tolerability issues.

A New Approach

Palvella initiated internal research efforts on the potential for QTORIN™ rapamycin in Gorlin Syndrome in 2017. PTX-022 is a topical gel designed to inhibit mTOR, a pathway that has been implicated in tumor formation by multiple studies¹. By targeting a novel pathway, this new approach aims to avoid some of the limitations of current approaches, such as resistance and recurrence. In 2018, a landmark study confirmed that the mTOR pathway is involved in BCC tumorigenesis in Gorlin Syndrome². Palvella plans to initiate a Phase 2b Clinical Trial in 2021 investigating the potential of PTX-022 (QTORIN™ rapamycin) for the prevention of Basal Cell Carcinomas associated with Gorlin Syndrome.

Hua, H., Kong, Q., Zhang, H. et al. Targeting mTOR for cancer therapy. J Hematol Oncol 12, 71 (2019) doi:10.1186/s13045-019-0754-1

Kim, A., Back, J. et al. SOX9 Transcriptionally Regulates mTOR-Induced Proliferation of Basal Cell Carcinomas. J Invest Dermatol. 2018 August; 138(8): 1716–1725.

Interested our upcoming Clinical Study?

Palvella intends to initiate a clinical trial for the prevention of BCCs in patients with Gorlin Syndrome in late spring 2021! Please use the link below to learn more about this study.

Anticipated Requirements Include:
  • Confirmed Gorlin syndrome
  • Adults, age 18 or older
  • History of at least 10 BCCs on the face within the past 24 months
  • Cannot have participated in another Gorlin clinical study in past 3 months

Resources for Gorlin

Gorlin Syndrome Alliance

Founded in 2000, the Gorlin Syndrome Alliance is the primary patient advocacy group for Gorlin Syndome in the U.S. Their mission is to thoughtfully support, comprehensively educate and aggressively seek treatments and a cure for Gorlin Syndrome, its manifestations, and BCCs.

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National Organization for Rare Disorders

NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 280 patient organizations members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.

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